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Effects of SNPs in the Col1a1 and Methylenetetrahydrofolate Reductase Genes on BMD in Postmenopausal Women in Malta Cover

Effects of SNPs in the Col1a1 and Methylenetetrahydrofolate Reductase Genes on BMD in Postmenopausal Women in Malta

Balkan Journal of Medical Genetics
Volume 10 (2007): Issue 1 (April 2007)
By: ,   and    
Open Access
|Oct 2007
References

References

  1. Huang QY, Recker RR, Deng HW. Searching for osteoporosis genes in the post-genome era: progress and challenges.2003; 14(9): 701-715.
    Open DOISearch in Google Scholar
  2. Liu YZ, Liu YJ, Recker RR, Deng HW. Molecular studies of identification of genes for osteoporosis: the 2002 update.2003; 177(2): 147-196.
    Open DOISearch in Google Scholar
  3. Zmuda JM, Cauley JA, Ferrell RE. Molecular epidemiology of vitamin D receptor gene variants.2000; 22(2): 203-217.
    Open DOISearch in Google Scholar
  4. Ionnidis JPA, Stavrou I, Trikalinos TA, Zois C, Brandi ML, Gennari L, Albagha O, Ralston SH, Tsatsoulis A. Association of polymorphisms of the estrogen receptor α gene with bone mineral density and fracture risk in women: a meta-analysis.2002; 17(11): 2048-2060.
    Open DOISearch in Google Scholar
  5. Urano T, Shiraki M, Ezura Y, Fujita M, Sekine E, Hoshino S, Hosoi T, Orimo H, Emi M, Ouchi Y, Inoue S. Association of a single nucleotide polymorphism in low density lipoprotein receptorrelated protein 5 gene with bone mineral density.2004; 22(4): 341-345.
    Open DOISearch in Google Scholar
  6. Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF. Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures.2002; 17(7): 1245-1255.
    Open DOISearch in Google Scholar
  7. Chung HW, Seo JS, Hur SE, Kim HL, Kim JY, Jung JH, Kim LH, Park BL, Shin HD. Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women.2003; 48(5): 243-248.
    Open DOISearch in Google Scholar
  8. Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF. Polymorphisms in the transforming growth factor β1 gene and osteoporosis.2003; 32(3): 297-310.
    Open DOISearch in Google Scholar
  9. Kim JG, Roh KR, Lee JY. The relationship among serum insulin-like growth factor-I, insulinlike growth factor-I gene polymorphism, and bone mineral density in postmenopausal women in Korea.2002; 186(3): 345-350.
    Open DOISearch in Google Scholar
  10. Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdadottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SFA, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. Linkage of osteoporosis to chromosome 20p12 and association to BMP2.2003; 1(1): 1-10.
    Open DOISearch in Google Scholar
  11. Grant FA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the Collagen type 1 α1 gene.1996; 14(2): 203-205.
    Open DOISearch in Google Scholar
  12. Jorgensen HL, Madsen JS, Madsen B, Saleh MMA, Abrahamsen B, Fenger M, Lauritzen JB. Association of a common allelic polymorphism (C677T) in the methylene tetrahydrofolate reductase gene with reduced risk of osteoporotic fractures. A case control study in Danish postmenopausal women.2002; 71(5): 386-392.
    Search in Google Scholar
  13. Spotila LD, Rodriguez H, Koch M, Tenenhouse HS, Tenenhouse A, Li H, Devoto M. Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.2003; 73(2): 140-146.
    Open DOISearch in Google Scholar
  14. Dalgleish R. The human type I collagen mutation database.1997; 25(1): 181-187.
    Open DOISearch in Google Scholar
  15. Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms.2004; 20(1): 33-43.
    Open DOISearch in Google Scholar
  16. MacDonald HM, McGuigan FA, New SA, Campbell MK, Golden MHN, Ralston SH, Reid DM. COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss.2001; 16(9): 1634-1641.
    Open DOISearch in Google Scholar
  17. Mann V, Ralston SH. Meta-analysis of COLIA1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture.2003; 32(6): 711-717.
    Open DOISearch in Google Scholar
  18. Brown MA, Haughton MA, Grant SFA, Gunnell AS, Henderson NK, Eisman JA. Genetic control of bone density and turnover: role of the Collagen 1 α 1, oestrogen receptor, and vitamin D receptor genes.2001; 16(4): 758-764.
    Open DOISearch in Google Scholar
  19. Mann V, Hobson EE, Li B, Stewart TL, Grant SFA, Robins SP, Aspden RM, Ralston SH. A COLIA1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality.2001; 107(7): 899-907.
    Open DOISearch in Google Scholar
  20. Bernad M, Martinez ME, Escalona M, Gonzalez ML, Gonzalez C, Garces MV, DelCampo MT, Mola EM, Madero R, Carreno L. Polymorphism in the type I Collagen (COLIA1) gene and risk fractures in postmenopausal women.2002; 30(1): 223-228.
    Open DOISearch in Google Scholar
  21. Aerssens J, Dequeker J, Peeters J, Breemans S, Broos P, Boonen S. Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women.2000; 11(7): 583-591.
    Open DOISearch in Google Scholar
  22. Garcia-Giralt N, Nogues X, Enjuanes A, Puig J, Mellibovski L, Bay-Jensen A, Carreras R, Balcells S, Diez-Perez A, Grinberg D. Two new single nucleotide polymorphisms in the COLIA1 upstream regulatory region and their relationship to bone mineral density.2002; 17(3): 384-393.
    Open DOISearch in Google Scholar
  23. Lubec B, Fang-Kircher S, Lubec T, Blom HJ, Boers GH. Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.1996; 1315(3): 159-162.
    Open DOISearch in Google Scholar
  24. McLean RR, Karasik D, Selhub J, Tucker KL, Ordovas JM, Russo GT, Cupples LA, Jacques PF, Kiel DP. Association of a common polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene with bone phenotypes depends on plasma folate status.2003; 19(3): 410-418.
    Open DOISearch in Google Scholar
  25. Kang SS, Wong PW, Zhou JM, Sora J, Lessick M, Ruggie N, Grcevich G. Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease.1988; 37(7): 611-613.
    Open DOISearch in Google Scholar
  26. Van der Put NMJ, Gabreels F, Stevens EMB, Smeitink JAM, Trijbels FJM, Eskes TKAB, Van den Heuvel LP, Blom HJ. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects?1998; 62(5): 1044-1051.
    Open DOISearch in Google Scholar
  27. Miyao M, Morita H, Kurihara H, Inoue S, Hoshino S, Shiraki M, Yazaki Y, Ouchi Y. Association of methylenetetrahydrofolate reductase (MTHFR) polymorphism with bone mineral density in postmenopausal Japanese women.2000; 66(3): 190-194.
    Open DOISearch in Google Scholar
  28. Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD. First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.1998; 6(2): 151-157.
    Open DOISearch in Google Scholar
  29. Devoto M, Specchia C, Li HH, Caminis J, Tenenhouse A, Rodriguez H, Spotila LD. Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36.2001; 10(21): 2447-2452.
    Open DOISearch in Google Scholar
  30. Wilson SG, Reed PW, Bansal A, Chiano M, Lindersson M, Langdown M, Prince RL, Thompson D, Thompson E, Bailey M, Kleyn PW, Sambrook P, Shi MM, Spector TD. Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36.2003; 72(1): 144-155.
    Open DOISearch in Google Scholar
  31. Kanis JA, Melton LJ, Christiansen C, Johnston CC, Khaltaev N. The diagnosis of osteoporosis.1994; 9(8): 1137-1141.
    Open DOISearch in Google Scholar
  32. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells.1988; 16(3): 1215.
    Open DOISearch in Google Scholar
  33. Terwillinger JD, Ott J. Linkage disequilibrium between alleles at marker loci. In: Terwillinger JD, OTT J, Eds. Handbook of Human Genetic Linkage. Baltimore: John Hopkins University Press. 1994; 188-198.
    Search in Google Scholar
  34. Braga V, Mottes M, Mirandola S, Lisi V, Malerba G, Sartori L, Bianchi G, Gatti D, Rossini M, Bianchini D, Adami S. Association of CTR and COL1A1 alleles with BMD values in peri- and postmenopausal women.2000; 67(5): 361-366.
    Open DOISearch in Google Scholar
  35. Efstathiadou Z, Kranas V, Ionnnidis JPA, Georgiou I, Tsatsoulis A. The Sp1 COL1A1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women.2001; 12(4): 326-331.
    Open DOISearch in Google Scholar
  36. Weichetova M, Stepan JJ, Michalska A, Haas T, Pols HAP, Uitterlinden AG. COL1A1 polymorphism contributes to bone mineral density to assess prevalent wrist fractures.2000; 26(3): 287-290.
    Open DOISearch in Google Scholar
  37. Gerdhem P, Brandstrom H, Stiger F, Obrant K, Melhus H, Ljunggren O, Kindmark A, Akesson K. Association of Collagen type 1 (COL1A1) Sp1 binding site polymorphism to femoral neck bone mineral density and wrist fracture in 1044 elderly Swedish women.2004; 74(3): 264-269.
    Open DOISearch in Google Scholar
  38. Lei SF, Deng FY, Liu XH, Huang QR, Qin Y, Zhou Q, Jiang DK, Li YM, Mo XY, Liu MY, Chen XD, Wu XS, Shen H, Dvornyk V, Zhao L, Recker RR, Deng HW. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with populations of different ethnicity.2003; 21(1): 34-42.
    Open DOISearch in Google Scholar
  39. Lau EMC, Choy DTK, Li M, Woo J, Chung T, Sham A. The relationship between COL1A1 polymorphisms (Sp1) and COL1A2 polymorphisms (Eco R1 and PvuII) with bone mineral density in Chinese men and women.2004; 75(2): 133-137.
    Open DOISearch in Google Scholar
  40. Garnero P, Borel O, Grant SFA, Ralston SH, Delmas PD. Collagen 1 α1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study.1998; 13(5): 813-817.
    Open DOISearch in Google Scholar
  41. Qureshi AM, McGuigan FEA, Seymour DG, Hutchison JD, Reid DM, Ralston SH. Association between COL1A1 Sp1 alleles and femoral neck geometry.2001; 69(2): 67-72.
    Open DOISearch in Google Scholar
  42. Liu PY, Lu Y, Long JR, Xu FH, Shen H, Recker RR, Deng HW. Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians.2004; 41(10): 752-757.
    Open DOISearch in Google Scholar
  43. Garcia-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogues X, Carreras R, Diez-Perez D, Grinberg D, Balcells S. In vitro functional assays and haplotypes of two COL1A1-promoter SNPs.2005; 36(5): 902-908.
    Open DOISearch in Google Scholar
  44. Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scararo G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, Lopez MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martinez-Frias ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Geographical and ethnic variation of the 677 C→T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.2003; 40(8): 619-625.
    Open DOISearch in Google Scholar
  45. Castro R, Rivera I, Ravasco P, Jakobs C, Blom HJ, Camilo ME, Almeida IT. 5,10 Methylenetetrahydrofolate reductase 677 C→T and 1298 A→C mutations are genetic determinants of elevated homocysteine.2003; 96(4): 297-303.
    Open DOISearch in Google Scholar
  46. Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E, Selgsohn U. The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese and Africans.2002; 70(3): 758-762.
    Open DOISearch in Google Scholar
  47. Golbahar J, Hamidi A, Aminzadeh MA, Omrani GR. Association of plasma folate, plasmatotal homocysteine, but not methylenetetrahydrofolate reductase C677T polymorphism, with bone mineral density in postmenopausal Iranian women: a crosssectional study.2004; 35(3): 760-765.
    Open DOISearch in Google Scholar
  48. Abrahamsen B, Medsen JS, Tofteng CL, Stilgren L, Bladbjerg EM, Kristensen SR, Brixen K, Mosekilde L. Are effects of MTHFR (C677T) genotype on BMD confined to women with low folate and riboflavin intake? Analysis of food records from the Danish osteoporosis prevention study.2005; 36(3): 577-583.
    Open DOISearch in Google Scholar
  49. Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Carrocher R, Selhub J. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status.2002; 99(8): 5606-5611.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/v10034-007-0002-9 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 9 - 18
Published on: Oct 10, 2007
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Bone mineral density (BMD),
Bone loss,
COL1A1,
Maltese population,
Methylenetetrahydrofolate reductase (MTHFR),
Osteoporosis
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2007 C Vidal, M Brincat, A Xuereb-Anastasi, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

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